ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.1000del (p.Gln334fs)

dbSNP: rs1574459612
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000823426 SCV000964286 pathogenic Intellectual disability, autosomal dominant 1 2018-10-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MBD5 are known to be pathogenic (PMID: 23422940, 23587880). This variant has not been reported in the literature in individuals with MBD5-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln334Lysfs*18) in the MBD5 gene. It is expected to result in an absent or disrupted protein product.

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